Kleefstra syndrome due to 9q34 microdeletion
MONDO:0019896Mondo
Findings
No curated finding names Kleefstra syndrome due to 9q34 microdeletion yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
56 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- AphasiaHPOHP:0002381
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- EcholaliaHPOHP:0010529
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Very frequent (80% to 99% of cases)
- Flat occiputHPOHP:0005469
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Highly arched eyebrowHPOHP:0002553
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MutismHPOHP:0002300
- Very frequent (80% to 99% of cases)
Show the remaining 44
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Specific learning disabilityHPOHP:0001328
- Very frequent (80% to 99% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Frequent (30% to 79% of cases)
- Abnormal testis morphologyHPOHP:0000035
- Frequent (30% to 79% of cases)
- AutismHPOHP:0000717
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
Where it sits
Other names
5 names
Resolves to: Kleefstra syndrome due to 9q34 microdeletion
- Also called
- 9q subtelomeric deletion syndrome9qSTDSKleefstra syndrome due to 9q subtelomeric deletionKleefstra syndrome due to del(9)(q34)Kleefstra syndrome due to monosomy 9q34